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    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1999,
          "referenceAllele": "A",
          "start": 1998
        }
      ],
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      "geneNCBI_id": 5395,
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        "XM_011515427.1:c.1984A>T"
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        "hgvsWellDefined": "XP_011513729.1:p.Lys662_Asn877delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
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    },
    {
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        {
          "allele": "T",
          "end": 1843,
          "referenceAllele": "A",
          "start": 1842
        }
      ],
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        "XM_011515428.1:c.1828A>T"
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        {
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          "end": 1923,
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          "start": 1922
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        {
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          "referenceAllele": "A",
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        {
          "allele": "T",
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          "start": 1885
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      ],
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    {
      "@id": "http://reg.genome.network/allele/PA2827119164",
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        {
          "allele": "T",
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          "referenceAllele": "A",
          "start": 1922
        }
      ],
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      ],
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    },
    {
      "@id": "http://reg.genome.network/allele/PA2827124903",
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        {
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      ],
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      "hgvs": [
        "NM_001322009.1:c.1534A>T"
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      "proteinEffect": {
        "hgvs": "NP_001308938.1:p.Lys512Ter",
        "hgvsWellDefined": "NP_001308938.1:p.Lys512_Asn738delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
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      "hgvs": [
        "NM_001322010.1:c.1378A>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001308939.1:p.Lys460_Asn675delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827129587",
      "coordinates": [
        {
          "allele": "T",
          "end": 1977,
          "referenceAllele": "A",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322011.1:c.1006A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308940.1:p.Lys336Ter",
        "hgvsWellDefined": "NP_001308940.1:p.Lys336_Asn551delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827131498",
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "A",
          "start": 1971
        }
      ],
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      "geneNCBI_id": 5395,
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      "proteinEffect": {
        "hgvs": "NP_001308941.1:p.Lys336Ter",
        "hgvsWellDefined": "NP_001308941.1:p.Lys336_Asn551delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514684"
    },
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      "@id": "http://reg.genome.network/allele/PA2827133925",
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          "end": 1853,
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      ],
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        "NM_001322013.1:c.1366A>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001308942.1:p.Lys456_Asn671delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS514687"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS528598"
    },
    {
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          "allele": "T",
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          "referenceAllele": "A",
          "start": 1101
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      ],
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        "hgvsWellDefined": "XP_006715807.1:p.Lys336_Asn551delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "A",
          "start": 1850
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      ],
      "gene": "http://reg.genome.network/gene/GN009122",
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS565972"
    },
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        "hgvsWellDefined": "XP_024302568.1:p.Lys460_Asn675delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891864839",
      "coordinates": [
        {
          "allele": "T",
          "end": 1969,
          "referenceAllele": "A",
          "start": 1968
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662478",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000265849.12:c.1939A>T"
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          "RefSeq": {
            "hgvs": "NM_000535.7:c.1939A>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265849.7:p.Lys647Ter"
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          "RefSeq": {
            "hgvs": "NP_000526.2:p.Lys647Ter"
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827101393",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "A",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001308932.1:p.Lys512_Asn727delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827108147",
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001308933.1:p.Lys512_Asn727delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS685613"
    },
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      ],
      "gene": "http://reg.genome.network/gene/GN009122",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS685614"
    },
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      "gene": "http://reg.genome.network/gene/GN009122",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001308935.1:p.Lys595_Asn810delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827124075",
      "coordinates": [
        {
          "allele": "T",
          "end": 1726,
          "referenceAllele": "A",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322008.2:c.1621A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308937.1:p.Lys541Ter",
        "hgvsWellDefined": "NP_001308937.1:p.Lys541_Asn756delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827124903",
      "coordinates": [
        {
          "allele": "T",
          "end": 2154,
          "referenceAllele": "A",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322009.2:c.1534A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308938.1:p.Lys512Ter",
        "hgvsWellDefined": "NP_001308938.1:p.Lys512_Asn738delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827127487",
      "coordinates": [
        {
          "allele": "T",
          "end": 1673,
          "referenceAllele": "A",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322010.2:c.1378A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308939.1:p.Lys460Ter",
        "hgvsWellDefined": "NP_001308939.1:p.Lys460_Asn675delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827129587",
      "coordinates": [
        {
          "allele": "T",
          "end": 1920,
          "referenceAllele": "A",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322011.2:c.1006A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308940.1:p.Lys336Ter",
        "hgvsWellDefined": "NP_001308940.1:p.Lys336_Asn551delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827131498",
      "coordinates": [
        {
          "allele": "T",
          "end": 1915,
          "referenceAllele": "A",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322012.2:c.1006A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308941.1:p.Lys336Ter",
        "hgvsWellDefined": "NP_001308941.1:p.Lys336_Asn551delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827133925",
      "coordinates": [
        {
          "allele": "T",
          "end": 1796,
          "referenceAllele": "A",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322013.2:c.1366A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308942.1:p.Lys456Ter",
        "hgvsWellDefined": "NP_001308942.1:p.Lys456_Asn671delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685621"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026076",
      "coordinates": [
        {
          "allele": "T",
          "end": 1969,
          "referenceAllele": "A",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322014.2:c.1939A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308943.1:p.Lys647Ter",
        "hgvsWellDefined": "NP_001308943.1:p.Lys647_Asn873delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827138715",
      "coordinates": [
        {
          "allele": "T",
          "end": 2139,
          "referenceAllele": "A",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322015.2:c.1630A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308944.1:p.Lys544Ter",
        "hgvsWellDefined": "NP_001308944.1:p.Lys544_Asn759delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827119164",
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "A",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NM_001322007.2:c.1621A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308936.1:p.Lys541Ter",
        "hgvsWellDefined": "NP_001308936.1:p.Lys541_Asn756delinsPheArgAlaLysIleCysProGlyGluAsnGlnAlaAlaGluAspGluLeuArgLysGluIleSerLysThrMetPheAlaGluMetGluIleIleGlyGlnPheAsnLeuGlyPheIleIleThrLysLeuAsnGluAspIlePheIleValAspGlnHisAlaThrAspGluLysTyrAsnPheGluMetLeuGlnGlnHisThrValLeuGlnGlyGlnArgLeuIleAlaProGlnThrLeuAsnLeuThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718053"
    }
  ],
  "type": "nucleotide"
}